How much does BRCA1 and BRCA2 mutation testing cost?
The cost for BRCA1 and BRCA2 mutation testing usually ranges from several hundred to several thousand dollars. Insurance policies vary with regard to whether or not the cost is covered. People considering BRCA1 and BRCA2 mutation testing may want to find out about their insurance coverage for genetic tests before having the test.
Some of the genetic testing companies that offer testing for BRCA1 and BRCA2 mutations may offer testing at no charge to patients who lack insurance and meet specific financial and medical criteria.
What does a positive BRCA1 or BRCA2 genetic test result mean?
BRCA1 and BRCA2 gene mutation testing can give several possible results: a positive result, a negative result, or an ambiguous or uncertain result. A positive test result indicates that a person has inherited a known harmful mutation in BRCA1 or BRCA2 and, therefore, has an increased risk of developing certain cancers. However, a positive test result cannot tell whether an individual will actually develop cancer or when.
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Many women who inherit a harmful BRCA1 or BRCA2 mutation will never develop breast or ovarian cancer. A positive genetic test result may also have important health and social implications for family members (see Question 15), including future generations. Unlike most other medical tests, genetic tests can reveal information not only about the person being tested but also about that person’s relatives:
- Both men and women who inherit harmful BRCA1 or BRCA2 mutations, whether or not they develop cancer themselves, may pass the mutations on to their sons and daughters. Each child has a 50% chance of inheriting a parent’s mutation.
- If a person learns that he or she has inherited a harmful BRCA1 or BRCA2 mutation, this will mean that each of his or her siblings has a 50 percent chance of having inherited the mutation as well.
What does a negative BRCA1 or BRCA2 test result mean?
A negative test result can be more difficult to understand than a positive result because what the result means depends in part on an individual’s family history of cancer. If a close (first- or second-degree) relative of the tested person is known to carry a harmful BRCA1 or BRCA2 mutation, a negative test result is clear: it means that person does not carry the harmful mutation and cannot pass it on to their children. Such a test result is called a “true negative.”
A person with such a test result has the same risk of cancer as someone in the general population. If the tested person has a family history that suggests the possibility of having a harmful mutation in BRCA1 or BRCA2 but no such mutation has been identified in the family, a negative result is less clear. The likelihood that genetic testing will miss a known harmful BRCA1 or BRCA2 mutation is very low, but it could happen.
Moreover, scientists continue to discover new BRCA1 and BRCA2 mutations and have not yet identified all potentially harmful ones.
Therefore, it is possible that a person in this scenario with a negative test result actually has an as-yet unknown harmful BRCA1 or BRCA2 mutation that has not been identified. It is also possible for people to have a mutation in a gene other than BRCA1 or BRCA2 that increases their cancer risk but is not detectable by the test used.
People considering genetic testing for BRCA1 and BRCA2 mutations may want to discuss these potential uncertainties with a genetic counselor before undergoing testing (see Question 8).
